OMOP Concept 37397141
Deficiency of leukotriene C4 synthase
StandardConditionSNOMED717185008Disorder
Maps from
2
Descendants
0
Valid from
31 Jul 2016
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Deficiency of leukotriene C4 synthase via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C565439 | Leukotriene C4 Synthase Deficiency | Non-standard |
| Nebraska Lexicon | 717185008 | Hypotonia with failure to thrive and microcephaly syndrome | Non-standard |
Synonyms
Alternative names recorded for Deficiency of leukotriene C4 synthase across source vocabularies.
- deficiencia de leucotrieno C4 sintasa
- deficiencia de leucotrieno C4 sintasa (trastorno)
- Deficiency of leukotriene C4 synthase (disorder)
- Hypotonia with failure to thrive and microcephaly syndrome
- Leukotriene C4 synthase deficiency
- síndrome de hipotonía con falta de progreso y microcefalia
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of head
- 1Disorder of neurometabolic regulation
- 1Hereditary disorder of endocrine system
- 1Hereditary disorder of nervous system
- 1Microcephaly
- 1Specific enzyme deficiency
- 2Autosomal hereditary disorder
- 2Disease
- 2Disorder of endocrine system
- 2Disorder of nervous system
- 2Enzymopathy
- 2Finding of head circumference
- 2Functional disease of the CNS with neuroendocrine disturbance
- 2Head finding
- 2Hereditary disorder by system
- 2Metabolic disease
- 3Body measurement finding
- 3Clinical finding
- 3Disorder of body system
- 3Disorder of the central nervous system
- 3Hereditary disease
- 4Central nervous system finding
- 4Genetic disease
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